Publications by authors named "Mathilde Charcosset"

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Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.
Noel Peretti, Agnès Sassolas, Claude C Roy, Colette Deslandres, Mathilde Charcosset

Orphanet J Rare Dis· September 2010

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Chylomicron retention disease: a long term study of two cohorts.
Noel Peretti, Claude C Roy, Agnès Sassolas, Colette Deslandres, Eric Drouin, Mathilde Charcosset

Mol Genet Metab· June 2009

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Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.
Mathilde Charcosset, Agnès Sassolas, Noël Peretti, Claude C Roy, Colette Deslandres

Mol Genet Metab· January 2008

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Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.
Silke Leimkühler, Mathilde Charcosset, Philippe Latour, Claude Dorche, Soledad Kleppe

Hum Genet· October 2005

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Relation between XbA1 apolipoprotein B gene polymorphism and cardiovascular risk in a type 2 diabetic cohort.
Sophie Bernard, Sybil Charrière, Mathilde Charcosset, François Berthezène, Philippe Moulin

Atherosclerosis· July 2004

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